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The Maddi Foundation https://themaddifoundation.com/ Finding a cure for SPG15 Wed, 25 Nov 2020 16:40:41 +0000 en-GB hourly 1 https://wordpress.org/?v=6.4.1 https://themaddifoundation.com/wp-content/uploads/2017/11/new-logo.jpg The Maddi Foundation https://themaddifoundation.com/ 32 32 University of Sheffield and Pfizer lead new €25.5 million project to accelerate development of Advanced Therapy Medicinal Products https://themaddifoundation.com/2020/11/25/university-of-sheffield-and-pfizer-lead-new-e25-5-million-project-to-accelerate-development-of-advanced-therapy-medicinal-products/ Wed, 25 Nov 2020 16:38:09 +0000 https://themaddifoundation.com/?p=2023 The University and Pfizer have today launched a new consortium which aims to standardize and accelerate the development of Advanced Therapy Medicinal Products (ATMPs), allowing potentially transformative treatments to reach patients sooner.

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]]> https://www.sheffield.ac.uk/news/university-sheffield-and-pfizer-lead-new-eu255-million-project-accelerate-development-advanced

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]]> New “Prime Editing” Method Makes Only Single-Stranded DNA Cuts https://themaddifoundation.com/2020/09/18/new-prime-editing-method-makes-only-single-stranded-dna-cuts/ Fri, 18 Sep 2020 09:16:52 +0000 https://themaddifoundation.com/?p=2017 Anew gene editing technique called prime editing, tested in human and mouse cells, rewrites DNA by only cutting a single strand to add, remove, or replace base pairs.

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]]> Drug Combination Slows Progression Of ALS And Could Mark ‘New Era’ In Treatment https://themaddifoundation.com/2020/09/03/2011/ Thu, 03 Sep 2020 16:09:53 +0000 https://themaddifoundation.com/?p=2011 A combination of two experimental drugs appears to slow the decline of patients with amyotrophic lateral sclerosis, an illness often known as ALS or Lou Gehrig's disease.

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]]> Powerful DNA Manipulation: Improved Gene Editing With New Understanding of CRISPR-Cas9 Tool https://themaddifoundation.com/2020/08/05/powerful-dna-manipulation-improved-gene-editing-with-new-understanding-of-crispr-cas9-tool/ Wed, 05 Aug 2020 11:42:21 +0000 https://themaddifoundation.com/?p=1888 Within a mere eight years, CRISPR-Cas9 has become the go-to genome editor for both basic research and gene therapy. But CRISPR-Cas9 also has spawned other potentially powerful DNA manipulation tools that could help fix genetic mutations responsible for hereditary diseases.

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https://scitechdaily.com/powerful-dna-manipulation-improved-gene-editing-with-new-understanding-of-crispr-cas9-tool/

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]]> It will consume your life, 4 families take on Rare https://themaddifoundation.com/2020/07/07/it-will-consume-your-life-4-families-take-on-rare/ Tue, 07 Jul 2020 09:41:23 +0000 https://themaddifoundation.com/?p=1919 Monica Coenraads had a terrible feeling something was wrong with her 14-month-old baby, Chelsea. She had not learned to walk. She had one word, duck, and then lost it.
Chelsea, it turned out, had a rare genetic disease, Rett Syndrome.

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]]> University of Sheffield receives a Royal Recognition https://themaddifoundation.com/2020/02/25/university-of-sheffield-receives-a-royal-recognition/ Tue, 25 Feb 2020 08:44:44 +0000 https://themaddifoundation.com/?p=1933 The University of Sheffield has been awarded the Queen's Anniversary Prize for innovation in neuroscience
The prize is the highest national honour that recognises outstanding work by UK universities and colleges that demonstrate quality and innovation in their research
Sheffield has been recognised for improving patient outcomes for people living with neurodegenerative diseases such as Parkinson's Disease and Motor Neurone Disease

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Sheffield’s neuroscientists honoured at Buckingham Palace

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]]> BBC Radio Essex interview https://themaddifoundation.com/2018/02/20/462/ https://themaddifoundation.com/2018/02/20/462/#respond Tue, 20 Feb 2018 16:16:43 +0000 http://themaddifoundation.com/?p=462 The post BBC Radio Essex interview appeared first on The Maddi Foundation.

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BBC Radio Essex interview

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]]> https://themaddifoundation.com/2018/02/20/462/feed/ 0 Epping Forest Guardian https://themaddifoundation.com/2017/12/22/epping-forest-guardian/ https://themaddifoundation.com/2017/12/22/epping-forest-guardian/#respond Fri, 22 Dec 2017 12:03:54 +0000 http://themaddifoundation.com/?p=387 A teenager is in a race against time to raise cash to help scientists find a cure for her rare disorder.
Maddi Thurgood, 15, from Ongar, is thought to be the only person in the UK and one of just 20 worldwide suffering from SPG15 (Spastic Paraplegia Gene 15).
The condition, a type of motor neuron disease, causes paralysis of the limbs, affects vision and hearing and can also cause juvenile Parkinson’s.
Maddi’s family have been contacted by the Gene Therapy Research team at the Sheffield Institute for Translational Neuroscience, one of the world leaders in this area of research.

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]]> http://www.eppingforestguardian.co.uk/news/15063101.__100k_needed_to_help_find_cure_for_teen_s_rare_disease/

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]]> https://themaddifoundation.com/2017/12/22/epping-forest-guardian/feed/ 0 Repositive https://themaddifoundation.com/2017/12/22/repositive/ https://themaddifoundation.com/2017/12/22/repositive/#respond Fri, 22 Dec 2017 12:01:43 +0000 http://themaddifoundation.com/?p=383 Back in July, one of our users told us about Maddi Thurgood, a 16-year-old girl diagnosed with SPG15, and asked if we knew of any relevant data or contacts. SPG15 is a neurodegenerative disorder within the category of Hereditary Spastic Paraplegias.

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]]> https://themaddifoundation.com/2017/12/22/repositive/feed/ 0 Saffron Walden https://themaddifoundation.com/2017/12/22/saffron-walden/ https://themaddifoundation.com/2017/12/22/saffron-walden/#respond Fri, 22 Dec 2017 11:58:15 +0000 http://themaddifoundation.com/?p=378 http://www.saffronwaldenreporter.co.uk/news/gene-therapy-for-saffron-walden-school-pupil-could-help-other-children-around-the-world-1-5318871

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